Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors

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Bethesda,
Maryland20892

Purpose:

The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect
resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal
angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts
and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type
proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene
product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins
to two subunits of this elongation factor inhibits transcription and may play a crucial role
in the clinical development of the von Hippel Lindau phenotype.

Study summary:

The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect
resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal
angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts
and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type
proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene
product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins
to two subunits of this elongation factor inhibits transcription and may play a crucial role
in the clinical development of the von Hippel Lindau phenotype.

Criteria:

Patients meeting the diagnostic criteria for von Hippel-Lindau (VHL) disease.
No persons who are pregnant or lactating are eligible for the surgical arm of this
protocol until the pregnancy and/or nursing period has reached completion.
No patients with disorders associated with multiple abnormalities of the middle ear and
inner ear. Specific laboratory abnormalities such as anti-HIV-1, FTA-Abs, serum ANA, and
ANCA have been associated with AIDS, Syphilis, Systemic Lupus Erythematosus, and Wegener's
Granulomatosis, respectively.
No patients currently undergoing chemotherapeutic regimen with ototoxic agents (e.g.,
cisplatin). Other agents will be reviewed on a case-by-case basis for their potential to
cause ototoxicity and thereby interfere with audiologic data interpretation.
Patients with an ELST in an only hearing ear will be excluded from the protocol for
surgical treatment of ELST's (except in cases where other medical indications necessitate
intervention for the welfare of the patient).
Patients with only unilateral vestibular function on the side affected by the ELST, as
documented by caloric ENG testing, will be excluded from the surgical treatment group in
most cases.
No patients with the inability to understand all of the requirements of the study or
inability to give informed consent and/or comply with all aspects of the evaluation.

NCT ID:

NCT00001668

Primary Contact:

N/A

Backup Contact:

N/A

Location Contact:

Bethesda, Maryland 20892United States

There is no listed contact information for this specific location.

Site Status: N/A

Data Source: ClinicalTrials.gov

Date Processed: March 16, 2018

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